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CHRM3 codes for the M3 muscarinic acetylcholine receptor that is located on the surface of smooth muscle cells of the detrusor, the muscle that effects urinary voiding. Previously, we reported brothers in a family affected by a congenital prune belly-like syndrome with mydriasis due to homozygous CHRM3 frameshift variants. In this study, we describe two sisters with bladders that failed to empty completely and pupils that failed to constrict fully in response to light, who are homozygous for the missense CHRM3 variant c.352G > A; p.(Gly118Arg). Samples were not available for genotyping from their brother, who had a history of multiple urinary tract infections and underwent surgical bladder draining in the first year of life. He died at the age of 6 years. This is the first independent report of biallelic variants in CHRM3 in a family with a rare serious bladder disorder associated with mydriasis and provides important evidence of this association.

Original publication

DOI

10.1111/cge.13631

Type

Journal article

Journal

Clin Genet

Publication Date

12/2019

Volume

96

Pages

515 - 520

Keywords

CHRM3, distended bladder, prune belly, urinary bladder disease, Base Sequence, Family, Female, Homozygote, Humans, Malaysia, Male, Mutation, Missense, Receptor, Muscarinic M3, Urinary Bladder Diseases